Ontology highlight
ABSTRACT:
SUBMITTER: Demidowich AP
PROVIDER: S-EPMC5600657 | biostudies-other | 2017 Oct
REPOSITORIES: biostudies-other
Demidowich Andrew P AP Jun Joo Yun JY Yanovski Jack A JA
Biochimica et biophysica acta. Molecular basis of disease 20170329 10 Pt A
Inactivating mutations in the melanocortin 3 receptor (Mc3r) have been described as causing obesity in mice, but the physiologic effects of MC3R mutations in humans have been less clear. Here we review the MC3R polymorphisms and mutations identified in humans, and the in vitro, murine, and human cohort studies examining their putative effects. Some, but not all, studies suggest that the common human MC3R variant T6K+V81I, as well as several other rare, function-altering mutations, are associated ...[more]